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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3276 - 3300** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	TGFB3	7043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111480	combined oxidative phosphorylation deficiency 10 Aliases: COXPD10 infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	MTO1	25821	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis Aliases: NSIAD	AVPR2	554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	ACOX2	8309	Homo sapiens (human)	Alliance of Genome Resources
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	MYOC	4653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111214	autosomal recessive distal hereditary motor neuronopathy 5 Aliases: DSMA5 autosomal recessive distal spinal muscular atrophy type 5 distal spinal muscular atrophy type 5 young adult-onset dHMN young adult-onset distal hereditary motor neuropathy	DNAJB2	3300	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	ACVR2B BICC1 CC2D1A CC2D2A CCDC39 CFAP53 CFC1 CFC1B DNAAF3 DNAH11 DNAH5 DRC1 FOXH1 GDF1 IFT74 MEGF8 MMP21 NODAL ODAD2 OSBPL1A PCSK5 PHKA2 PKD1L1 PSME4 SLIT2 TBC1D32 TMEM67	114876 118856 168507 1767 1954 220136 221322 23198 2657 339829 352909 4838 5125 5256 54862 55130 55997 57545 653275 80114 80173 8701 8928 91147 92749 93 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:12375	bronchopneumonia Aliases: Chest infection - bronchopneumonia bronchial pneumonia lobular pneumonia	CCL5 MBL2	4153 6352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081177	autosomal recessive intellectual developmental disorder 1	PRSS12	8492	Homo sapiens (human)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080582	hypotrichosis 14	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111495	combined oxidative phosphorylation deficiency 33 Aliases: COXPD33	C1QBP	708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1 Aliases: EDMD1 EMD1 Emery-Dreifuss muscular dystrophy 1, X-linked humeroperoneal neuromuscular disease muscular dystrophy, tardive, Dreifuss-Emery type, with contractures scapuloperoneal syndrome, X-linked	EMD	2010	Homo sapiens (human)	Alliance of Genome Resources
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	ACVR1 APEX1 COL4A2 ERAP1 ERAP2 GPX3 LNPEP RBP4	1284 2878 328 4012 51752 5950 64167 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070394	developmental and epileptic encephalopathy 108 Aliases: DEE108 early infantile epileptic encephalopathy 108	MAST3	23031	Homo sapiens (human)	Alliance of Genome Resources
DOID:1579	respiratory system disease	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070053	autosomal dominant intellectual developmental disorder 23 Aliases: MRD23 autosomal dominant mental retardation 23 autosomal dominant non-syndromic intellectual disability 23	SETD5	55209	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070378	developmental and epileptic encephalopathy 109 Aliases: DEE109	FZR1	51343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	BLTP1	84162	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110823	hereditary spastic paraplegia 8 Aliases: SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARID1A KMT2C KRAS PREX2	3845 58508 80243 8289	Homo sapiens (human)	Alliance of Genome Resources

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